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Although the neurological signs were indistinguishable from those of ataxia\u2010telangiectasia, the onset tended to be later and none of the patients had evidence of multisystemic involvement. Specifically, there was no tendency to frequent infections, and immunoglobulins, \u03b1\u2010fetoprotein, T\u2010 and B\u2010lymphocyte Marchkers, and chromosomes 7 and 14 were normal in all tested patients. The simultaneous absence of telangiectasias and of other nonneurological manifestations made ataxia\u2010telangiectasia an unlikely diagnosis. We suggest that these patients suffer from an unusual type of spinocerebellar degeneration. This syndrome has been observed in different populations from three continents, with a genetic pattern suggesting recessive autosomal inheritance.<\/jats:p>","DOI":"10.1002\/ana.410240404","type":"journal-article","created":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T14:03:39Z","timestamp":1104588219000},"page":"497-502","source":"Crossref","is-referenced-by-count":116,"title":["Ataxia\u2014ocular motor aprilaxia: A syndrome mimicking ataxia\u2010telangiectasia"],"prefix":"10.1002","volume":"24","author":[{"given":"Jean","family":"Aicardi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9lia","family":"Barbosa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva","family":"Andermann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frederick","family":"Andermann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rami","family":"Morcos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qais","family":"Ghanem","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yukio","family":"Fukuyama","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yutaka","family":"Awaya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul","family":"Moe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2004,10,8]]},"reference":[{"key":"e_1_2_1_2_2","first-page":"1","volume-title":"Ataxia\u2010telangiectasia: genetics, neuropathology, and immunology of a degenerative disease of childhood","author":"Boder E.","year":"1985"},{"key":"e_1_2_1_3_2","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1959.04220030020004"},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0387-7604(81)80051-4"},{"key":"e_1_2_1_5_2","first-page":"267","volume-title":"Handbook of clinical neurology","author":"Sedgwick RP","year":"1972"},{"key":"e_1_2_1_6_2","doi-asserted-by":"publisher","DOI":"10.7326\/0003-4819-99-3-367"},{"key":"e_1_2_1_7_2","doi-asserted-by":"publisher","DOI":"10.1136\/adc.53.5.386"},{"key":"e_1_2_1_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/0027-5107(82)90044-6"},{"key":"e_1_2_1_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(75)92858-5"},{"key":"e_1_2_1_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/0027-5107(81)90061-0"},{"key":"e_1_2_1_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/0027-5107(80)90101-3"},{"key":"e_1_2_1_12_2","first-page":"189","volume-title":"Ataxia\u2010telangiectasia: genetics, neuropathology, and immunology of a degenerative disease of childhood","author":"Hecht F","year":"1985"},{"key":"e_1_2_1_13_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(72)92717-1"},{"key":"e_1_2_1_14_2","first-page":"2651","article-title":"A variant type of early onset spinocerebellar degeneration with ocular motor apraxia and choreoathetosis","volume":"89","author":"Awaya Y","year":"1985","journal-title":"Jpn J Pediatr"},{"key":"e_1_2_1_15_2","first-page":"271","article-title":"A hereditary variant of spinocerebellar degeneration associated with choreoathetosis and ocular motor apraxia of early onset","volume":"28","author":"Awaya Y","year":"1986","journal-title":"Acta Paediatr Jpn"},{"key":"e_1_2_1_16_2","first-page":"355","article-title":"Congenital ocular motor apraxia associated with spinocerebellar degeneration","volume":"21","author":"Araie M","year":"1977","journal-title":"Jpn J Ophthalmol"},{"key":"e_1_2_1_17_2","first-page":"855","article-title":"Congenital ocular motor apraxia and cerebellar degeneration\u2013report of two cases","volume":"11","author":"Inoue. 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